O. Patat

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Michael Bauer, Uwe Kölsch, Renate Krüger et al. · Journal of Clinical Immunology · 2015 · 46 citations · Full text

Autoimmune Disease, Genetic Disorder, Pathogenesis +6

Confirmation of <i>TENM3</i> involvement in autosomal recessive colobomatous microphthalmia

Nicolas Chassaing, Nicola Ragge, Julie Plaisancié et al. · American Journal of Medical Genetics Part A · 2016 · 36 citations · Full text

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of &lt;b&gt;&lt;i&gt;OTX2&lt;/i&gt;&lt;/b&gt;

O. Patat, Conny M.A. van Ravenswaaij‐Arts, Julia Tantau et al. · Molecular Syndromology · 2013 · 35 citations · Full text

Ocular Disease, Genetics, Prrx1 Mutation +16

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features

Pierre Vande Perre, Celia Zazo Seco, O. Patat et al. · European Journal of Medical Genetics · 2017 · 11 citations